| Metadata | |
|---|---|
| ID | DOID:0070617 |
| Name | rhabdoid tumor predisposition syndrome |
| Definition | A syndrome characterized by a markedly increased risk for the development of rhabdoid tumors, rare and highly aggressive malignant tumors occurring in almost any anatomical location predominantly in infants and young children. https://medlineplus.gov/genetics/condition/rhabdoid-tumor-predisposition-syndrome/, https://www.ncbi.nlm.nih.gov/books/NBK469816/ |
| Xrefs | |
| SKOS |
exactMatch MIM:PS609322 exactMatch UMLS_CUI:C2985524 exactMatch NCI:C93268 exactMatch ORDO:231108 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
familial posterior fossa brain tumor syndrome of infancy [EXACT] rhabdoid predisposition syndrome [EXACT] RTPS [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
existence starts during some (Infantile onset or Childhood onset) has material basis in some autosomal dominant inheritance |